All variants in the SLC17A5 gene

Information The variants shown are described using the NM_012434.4 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/+ 2 c.115C>T r.115c>t p.Arg39Cys - pathogenic g.74354306G>A g.73644583G>A R39C, in loop before TM domain 1 - SLC17A5_000002 Finnish major SD mutation: >100 Finnish SD patients (most hom) and also 14 Swedish SD patients (most hom). In addition, British, Italian, Dutch, German, American and Old Order Mennonite SD patients. PubMed: Verheijen et al. 1999, PubMed: Aula et al. 2000, PubMed: Varho et al. 2002, PubMed: Linnakivi et al. 2003, PubMed: Martin et al. 2003, PubMed: Strauss et al. 2005 - rs80338794 SUMMARY record yes 0/100 FIN CON - - - Anne Polvi
+/. - c.115C>T r.(?) p.(Arg39Cys) - pathogenic g.74354306G>A g.73644583G>A SLC17A5(NM_012434.4):c.115C>T (p.R39C), SLC17A5(NM_012434.5):c.115C>T (p.R39C) - SLC17A5_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/. - c.115C>T r.(?) p.(Arg39Cys) - pathogenic g.74354306G>A g.73644583G>A SLC17A5(NM_012434.4):c.115C>T (p.R39C), SLC17A5(NM_012434.5):c.115C>T (p.R39C) - SLC17A5_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.115C>T r.(?) p.(Arg39Cys) - pathogenic g.74354306G>A g.73644583G>A - - SLC17A5_000002 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs80338794 Germline - 1/2795 individuals - 0 - Mohammed Faruq
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